CHNG4
MCID: HYP795
MIFTS: 57

Hypothyroidism, Congenital, Nongoitrous, 4 (CHNG4)

Categories: Endocrine diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Hypothyroidism, Congenital, Nongoitrous, 4

MalaCards integrated aliases for Hypothyroidism, Congenital, Nongoitrous, 4:

Name: Hypothyroidism, Congenital, Nongoitrous, 4 58 74
Tsh Deficiency 58 54 56
Congenital Nongoitrous Hypothyroidism 4 12 15
Thyrotropin Deficiency, Isolated 58 54
Isolated Thyrotropin Deficiency 12 60
Isolated Tsh Deficiency 60 38
Pituitary Cretinism 58 54
Chng4 58 12
Isolated Thyroid-Stimulating Hormone Deficiency 60
Hypothyroidism, Congenital, Nongoitrous, Type 4 41
Thyroid-Stimulating Hormone, Deficiency of 54
Hypothyroidism, Congenital, Nongoitrous 4 58
Thyroid-Stimulating Hormone Deficiency 58
Secondary Hypothyroidism 74

Characteristics:

Orphanet epidemiological data:

60
isolated thyroid-stimulating hormone deficiency
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
hypothyroidism, congenital, nongoitrous, 4:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare endocrine diseases


Summaries for Hypothyroidism, Congenital, Nongoitrous, 4

Disease Ontology : 12 A congenital hypothyroidism characterized by a permanent thyroid deficiency present at birth and resulting from deficiency in TSH synthesis that has material basis in homozygous mutation in the TSHB gene on chromosome 1p13.

MalaCards based summary : Hypothyroidism, Congenital, Nongoitrous, 4, also known as tsh deficiency, is related to myxedema and adenohypophysitis. An important gene associated with Hypothyroidism, Congenital, Nongoitrous, 4 is TSHB (Thyroid Stimulating Hormone Subunit Beta), and among its related pathways/superpathways are Thyroid hormone synthesis and Aldosterone synthesis and secretion. The drugs Selenium and Iodine have been mentioned in the context of this disorder. Affiliated tissues include thyroid, pituitary and breast, and related phenotypes are hypothyroidism and muscular hypotonia

Description from OMIM: 275100

Related Diseases for Hypothyroidism, Congenital, Nongoitrous, 4

Diseases in the Hypothyroidism, Congenital, Nongoitrous, 2 family:

Hypothyroidism, Congenital, Nongoitrous, 5 Hypothyroidism, Congenital, Nongoitrous, 4
Hypothyroidism, Congenital, Nongoitrous, 1 Hypothyroidism, Congenital, Nongoitrous, 3
Hypothyroidism, Congenital, Nongoitrous, 6

Diseases related to Hypothyroidism, Congenital, Nongoitrous, 4 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 128)
# Related Disease Score Top Affiliating Genes
1 myxedema 29.9 TG TPO
2 adenohypophysitis 29.7 GH1 POMC PRL TRH
3 conn's syndrome 29.7 CRH GH1 POMC PRL
4 thyroid cancer 29.6 POMC TG TPO TSHB
5 pituitary gland disease 28.4 CRH GH1 IGF1 POMC POU1F1 PRL
6 hypothyroidism 27.2 GH1 IGF1 POMC POU1F1 PRL PROP1
7 thyroid-stimulating hormone level quantitative trait locus 1 11.2
8 central congenital hypothyroidism 11.1
9 hypothyroidism due to deficient transcription factors involved in pituitary development or function 10.4 POU1F1 PROP1
10 combined pituitary hormone deficiencies, genetic forms 10.4 POU1F1 PROP1
11 fibrous dysplasia/mccune-albright syndrome 10.4 GH1 PRL
12 chiasmal syndrome 10.4 POMC PRL
13 pituitary apoplexy 10.4 POMC PRL
14 sella turcica neoplasm 10.4 POMC PRL
15 tuberculum sellae meningioma 10.4 POMC PRL
16 gigantism 10.3 GH1 PRL
17 acute thyroiditis 10.3 POMC TG
18 lymphocytic hypophysitis 10.3 GH1 POMC
19 pituitary hypoplasia 10.3 POU1F1 PRL
20 endocrine exophthalmos 10.3 POMC TG
21 galactorrhea 10.3 IGF1 PRL
22 acidophil adenoma 10.3 IGF1 POMC
23 generalized resistance to thyroid hormone 10.3 PRL TRH
24 mammographic density 10.3 IGF1 PRL
25 abducens nerve disease 10.3 POMC PRL
26 central precocious puberty 10.3 GH1 IGF1
27 marasmus 10.2 GH1 IGF1
28 septooptic dysplasia 10.2 POU1F1 PROP1
29 pituitary stalk interruption syndrome 10.2 GH1 POU1F1 PRL
30 diabetes insipidus, neurohypophyseal 10.2 POMC PRL
31 allergic encephalomyelitis 10.2 CRH POMC
32 melancholia 10.2 CRH PRL
33 gangliocytoma 10.2 CRH POMC
34 cone-rod dystrophy 12 10.2 GH1 IGF1
35 acth deficiency, isolated 10.2 CRH POMC
36 isolated growth hormone deficiency, type ib 10.2 GH1 IGF1
37 subacute lymphocytic thyroiditis 10.2 TG TPO
38 familial thyroid dyshormonogenesis 10.2 TG TPO
39 postsurgical hypothyroidism 10.2 TG TRH
40 pituitary infarct 10.2 IGF1 POMC PRL
41 goiter, multinodular 1, with or without sertoli-leydig cell tumors 10.2 TG TPO
42 hypothyroidism, central, and testicular enlargement 10.2 PRL TRH TSHB
43 endocrine organ benign neoplasm 10.2 IGF1 POMC PRL
44 suprasellar meningioma 10.2 POMC TRH TSHB
45 pituitary adenoma 1, multiple types 10.2 GH1 IGF1 PRL
46 hyperandrogenism 10.2 IGF1 POMC PRL
47 tetrahydrobiopterin deficiency 10.2 GH1 PRL
48 mccune-albright syndrome 10.2 GH1 IGF1 PRL
49 acquired metabolic disease 10.2 IGF1 POMC PRL
50 fibrous dysplasia 10.2 GH1 IGF1 PRL

Graphical network of the top 20 diseases related to Hypothyroidism, Congenital, Nongoitrous, 4:



Diseases related to Hypothyroidism, Congenital, Nongoitrous, 4

Symptoms & Phenotypes for Hypothyroidism, Congenital, Nongoitrous, 4

Human phenotypes related to Hypothyroidism, Congenital, Nongoitrous, 4:

60 33 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypothyroidism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000821
2 muscular hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001252
3 constipation 60 33 hallmark (90%) Very frequent (99-80%) HP:0002019
4 sleep disturbance 60 33 hallmark (90%) Very frequent (99-80%) HP:0002360
5 macroglossia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000158
6 coarse facial features 60 33 hallmark (90%) Very frequent (99-80%) HP:0000280
7 umbilical hernia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001537
8 fatigue 60 33 hallmark (90%) Very frequent (99-80%) HP:0012378
9 feeding difficulties 60 33 hallmark (90%) Very frequent (99-80%) HP:0011968
10 jaundice 60 33 hallmark (90%) Very frequent (99-80%) HP:0000952
11 large fontanelles 60 33 hallmark (90%) Very frequent (99-80%) HP:0000239
12 abdominal distention 60 33 hallmark (90%) Very frequent (99-80%) HP:0003270
13 depressed nasal bridge 33 HP:0005280
14 hoarse cry 33 HP:0001615
15 intellectual disability, severe 33 HP:0010864
16 abnormality of metabolism/homeostasis 33 HP:0001939
17 intellectual disability, progressive 33 HP:0006887
18 wide anterior fontanel 33 HP:0000260
19 omphalocele 33 HP:0001539
20 generalized hypotonia 33 HP:0001290
21 severe postnatal growth retardation 33 HP:0008850
22 congenital hypothyroidism 33 HP:0000851

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Mouth:
macroglossia

Abdomen External Features:
umbilical hernia
omphalocele (rare)

Muscle Soft Tissue:
hypotonia

Neurologic Central Nervous System:
mental retardation, severe (if untreated)

Skeletal Skull:
large anterior fontanelle
open posterior fontanelle

Head And Neck Nose:
depressed nasal bridge

Voice:
hoarse cry

Growth Other:
growth retardation, severe (if untreated)

Endocrine Features:
hypothyroidism, nongoitrous

Laboratory Abnormalities:
low to normal tsh (values may vary depending on the measurement methods used)

Clinical features from OMIM:

275100

MGI Mouse Phenotypes related to Hypothyroidism, Congenital, Nongoitrous, 4:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.96 CRH IGF1 PBX1 POMC POU1F1 PRL
2 growth/size/body region MP:0005378 9.85 CRH IGF1 PBX1 POMC POU1F1 PROP1
3 homeostasis/metabolism MP:0005376 9.7 CRH DMPK IGF1 PBX1 POMC POU1F1
4 nervous system MP:0003631 9.28 CRH IGF1 PBX1 POMC POU1F1 PRL

Drugs & Therapeutics for Hypothyroidism, Congenital, Nongoitrous, 4

Drugs for Hypothyroidism, Congenital, Nongoitrous, 4 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 266)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Selenium Approved, Investigational, Vet_approved Phase 4,Phase 2,Not Applicable 7782-49-2
2
Iodine Approved, Investigational Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1 7553-56-2 807
3
Leuprolide Approved, Investigational Phase 4 53714-56-0 657181 3911
4
leucovorin Approved Phase 4,Phase 3 58-05-9 143 6006
5
Hydroxocobalamin Approved Phase 4 13422-51-0 15589840 11953898
6
Nicotinamide Approved, Investigational Phase 4 98-92-0 936
7
Copper Approved, Investigational Phase 4 7440-50-8 27099
8
Iron Approved, Experimental Phase 4,Phase 2,Phase 1 7439-89-6, 15438-31-0 27284 23925
9
Bexarotene Approved, Investigational Phase 4 153559-49-0 82146
10
Xylometazoline Approved, Investigational Phase 4 526-36-3 5709
11
Prednisone Approved, Vet_approved Phase 4,Phase 2 53-03-2 5865
12
Celecoxib Approved, Investigational Phase 4 169590-42-5 2662
13
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
14 Orange Approved Phase 4
15
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
16
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
17
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
18
Peginterferon alfa-2a Approved, Investigational Phase 4 198153-51-4 5360545
19
Ribavirin Approved Phase 4 36791-04-5 37542
20
Deferasirox Approved, Investigational Phase 4,Phase 2 201530-41-8 5493381
21
Salmon Calcitonin Approved, Investigational Phase 4 47931-85-1 16129616
22
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3 59-30-3 6037
23
Niacin Approved, Investigational, Nutraceutical Phase 4 59-67-6 938
24
Cyanocobalamin Approved, Nutraceutical Phase 4 68-19-9 44176380
25
Calcium Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Not Applicable 7440-70-2 271
26 Deslorelin Investigational, Vet_approved Phase 4 57773-65-6
27
Cobalamin Experimental Phase 4 13408-78-1 6857388
28
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
29
Calcitonin gene-related peptide Investigational Phase 4 83652-28-2
30 Pharmaceutical Solutions Phase 4,Phase 3,Phase 2
31 Hormones Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
32 insulin Phase 4,Not Applicable
33 Insulin, Globin Zinc Phase 4,Not Applicable
34 Trace Elements Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
35 Protective Agents Phase 4,Phase 3,Phase 2,Not Applicable
36 Antioxidants Phase 4,Phase 2,Not Applicable
37 Micronutrients Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
38 Nutrients Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
39 Hormone Antagonists Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
40 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
41 cadexomer iodine Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1
42 Anti-Infective Agents, Local Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1
43 Anti-Infective Agents Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1
44 Anti-Inflammatory Agents Phase 4,Phase 2,Not Applicable
45 Autonomic Agents Phase 4,Phase 2,Not Applicable
46 Peripheral Nervous System Agents Phase 4,Phase 2,Not Applicable
47 Antibodies Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable
48 Immunoglobulins Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable
49 carnitine Phase 4
50 Cathartics Phase 4

Interventional clinical trials:

(show top 50) (show all 274)
# Name Status NCT ID Phase Drugs
1 Randomized Crossover Trial for the Evaluation of the Possible Effects in the Intestine of Two Different Pharmaceutical Forms of L - Thyroxine in Patients With Primary Acquired Hypothyroidism Unknown status NCT02917863 Phase 4 L-Thyroxine (tablet, per os);L-Thyroxine (oral drops, solution)
2 Effects of Levothyroxine Supplementation in Patients With Systolic Heart Failure and Subclinical Hypothyroidism Unknown status NCT02316743 Phase 4 Levothyroxine supplementation
3 Thyroxine Titration Study Unknown status NCT00111735 Phase 4 Thyroxine
4 Thyroid Study Type 2 Diabetes Mellitus (T2DM) Unknown status NCT01379170 Phase 4 Euthyrox (levothyroxine)
5 Selenium Supplementation in Youths With Autoimmune Thyroiditis Unknown status NCT02644707 Phase 4
6 Thyroid Hormone Replacement for Subclinical Hypothyroidism Completed NCT01660126 Phase 4 Levothyroxine;Placebo
7 Growth Hormone and GnRH Agonist in Adolescents With Acquired Hypothyroidism Completed NCT00206375 Phase 4 Growth hormone;Growth hormone treatment and puberty
8 Neurocognitive and Metabolic Effects of Mild Hypothyroidism Completed NCT00565864 Phase 4 L-thyroxine (L-T4)
9 Effects of L-carnitine on Hypothyroidism Completed NCT01769157 Phase 4 L-carnitine;Placebo
10 Phase 4 Study in Secondary Hypothyroidism: Body Weight Adapted Thyroxin Treatment and Triiodothyronine Supplementation Completed NCT00360074 Phase 4 Thyroxin, Triiodothyronine
11 Effect of T4-T3 Combination Therapy Versus T4 Monotherapy in Patients With Hypothyroidism Completed NCT00531713 Phase 4 Triiodothyronine
12 Study of Radioiodine (131-I) Uptake Following Administration of Thyrogen and Hypothyroid States During Thyroid Hormone Withdrawal. Completed NCT00001730 Phase 4 Thyrogen
13 Effect of Thyroid Hormone Replacement on Fatigability in Untreated Older Adults With Subclinical Hypothyroidism Completed NCT02500342 Phase 4 Levothyroxine;Placebo
14 The TRUST Study - Depression Substudy Completed NCT01853579 Phase 4 Levothyroxine;Placebo
15 Study of Optimal Replacement of Thyroxine in the Elderly Completed NCT01647750 Phase 4 Levothyroxine;Levothyroxine
16 Bioequivalence of Two Levothyroxine Tablet Formulations in Healthy Indian Volunteers Completed NCT01536678 Phase 4 Levothyroxine;Levothyroxine
17 Study to Verify Clinical Utility of Point-of-Care (POC) Thyroid Stimulating Hormone (TSH) Test Kits as Compared to Third Generation TSH Test Kit Completed NCT01921452 Phase 4
18 The TRUST Trial - CardioVascular Imaging ECHO Completed NCT02832960 Phase 4 Levothyroxine;Placebo
19 The TRUST Study - CardioVascular Imaging IMT Completed NCT02832934 Phase 4 Levothyroxine;Placebo
20 Iodine Status of Preschoolers Given Micronutrient Powder for 6 Months Completed NCT02280330 Phase 4
21 Carbohydrate Metabolism Disorder Frequency in Hypertriglyceridemia Induced by Bexarotene of Cutaneous T Cell Lymphoma Completed NCT01569724 Phase 4
22 Short-term Prednisone to Treat STA Study(SPTSS) Completed NCT01837433 Phase 4 Prednisone 1 week;Prednisone 6 weeks
23 Novel Biomarkers and Skeletal Outcomes Associated With Subclinical Thyroid Dysfunction Completed NCT02491008 Phase 4 Levothyroxine;Placebo
24 Safety and Efficacy of Oral Mega Pulse Methylprednisolone in Severe Therapy Resistant Alopecia Areata Completed NCT01167946 Phase 4 methylprednisolone sodium succinate;methylprednisolone sodium succinate;methylprednisolone sodium succinate
25 Long-Term Growth and Skeletal Effects of Early Growth Hormone Treatment in Turner Syndrome Completed NCT00266656 Phase 4 Humatrope
26 A Triple Combination Therapy Study of Boceprevir, Pegasys and Copegus in Previously Untreated Patients With Genotype 1 Chronic Hepatitis C Completed NCT01591460 Phase 4 boceprevir;peginterferon alfa-2a [Pegasys];peginterferon alfa-2a [Pegasys];ribavirin (Copegus];ribavirin (Copegus]
27 Mean Percentage of Levothyroxine Dosage Increase in Patients With Hypothyroidism Started on Enteral Feeding Recruiting NCT02577367 Phase 4 Levothyroxine
28 Hypothyroidism Treated With Calcitonin Recruiting NCT03342001 Phase 4 Calcitonin
29 Thyroid Hormone Replacement for Subclinical Hypothyroidism and Chronic Heart Failure (ThyroHeart-CHF) Recruiting NCT03096613 Phase 4 Levothyroxine
30 Thyroid Hormone Replacement for Hypothyroidism and Acute Myocardial Infarction(ThyroHeart-AMI) Recruiting NCT02512978 Phase 4 Levothyroxine
31 Thyroid Function of Pediatric Subjects Following Isovue® Administration Recruiting NCT03779906 Phase 4 Isovue
32 Levothyroxine Sodium in Thyroidectomized Patients Taking Proton Pump Inhibitors Recruiting NCT03094416 Phase 4 levothyroxine sodium capsule
33 Levothyroxine Replacement With Liquid Gel Capsules vs Tablets Post-thyroidectomy Recruiting NCT02946918 Phase 4 Levothyroxine
34 Effects of L-thyroxine Replacement on Serum Lipid and Atherosclerosis in Hypothyroidism Active, not recruiting NCT01848171 Phase 4 L-thyroxine
35 Effect of L-Thyroxine on Lipid Profiles and Atherosclerosis in Subclinical Hypothyroidism Active, not recruiting NCT01831869 Phase 4 L-thyroxine
36 Pediatric Risk of Hypothyroidism With Iodinated Contrast Media Not yet recruiting NCT03631771 Phase 4 Iohexol;Iodixanol;Iopromide
37 Effects of Levothyroxine Treatment on Hemodynamic and Renal Functions in Subclinical Hypothyroidism Withdrawn NCT02186405 Phase 4 LEVOTHYROXINE
38 Levothyroxine in Pregnant SLE Patients Withdrawn NCT01276782 Phase 4 Levothyroxine
39 Effect of Deferasirox on Endocrine Complications in Subjects With Transfusion Dependent Thalassemia Withdrawn NCT02069886 Phase 4 deferasirox
40 Thyroxin Treatment in Sub Clinical Hypothyroidism, on the Apnea Hypopnea Index Score, Lipids and Highly Sensitive CRP Unknown status NCT01486667 Phase 3 levothyroxine;sugar pill
41 Early Levothyroxine Post Radioactive Iodine Unknown status NCT01950260 Phase 2, Phase 3 Levothyroxine
42 Levothyroxine Treatment for Subclinical Hypothyroidism After Head and Neck Surgery Unknown status NCT02548715 Phase 2, Phase 3 Levothyroxine;Placebo
43 The Prospective Study of Standard Treatment of Graves Disease Iodine 131 and Prevention of Adverse Reactions Unknown status NCT01204359 Phase 3
44 Medico-Economic Comparison of Four Strategies of Radioiodine Ablation in Thyroid Carcinoma Patients Unknown status NCT00435851 Phase 3 Thyrogen, thyroid hormone withdrawal, iode 131
45 Effects of Levothyroxine on Endothelial Function of Patients With Subclinical Hypothyroidism Completed NCT02090907 Phase 2, Phase 3 Levothyroxine;Placebo
46 Supplementation of Thyroid Hormone for TSH Control in Patients With Chronic Kidney Disease Without TRR. Completed NCT03898622 Phase 3 Levothyroxine
47 Thyroid Therapy for Mild Thyroid Deficiency in Pregnancy Completed NCT00388297 Phase 3 Levothyroxine;Placebo for Levothyroxine
48 Comparison of the Safety and Successful Ablation of Thyroid Remnant in Post-thyroidectomized Euthyroid Patients (i.e. Patients Administered Thyrogen) Versus Hypothyroid Patients (no Thyrogen) Following 131I Administration Completed NCT00196729 Phase 3 Thyrogen + Radioiodine (131I)
49 Subclinical Hypothyroidism and Mind in the Elderly Completed NCT00921050 Phase 2, Phase 3 levothyroxine sodium;excipient without levothyroxine (placebo)
50 Assessing the Impact of the Early and Systematic Hormonal Replacement After Radio-isotopic Ablation of Graves'hyperthyroïdism on Quality of Life, Efficiency and Tolerance Completed NCT01295333 Phase 3 the early prophylactic introduction of low dose of LT4 (50 µg/d) at 15 days post-ablation;The initiation of LT4 as soon as the first biological signs of hypothyroidism.

Search NIH Clinical Center for Hypothyroidism, Congenital, Nongoitrous, 4

Genetic Tests for Hypothyroidism, Congenital, Nongoitrous, 4

Anatomical Context for Hypothyroidism, Congenital, Nongoitrous, 4

MalaCards organs/tissues related to Hypothyroidism, Congenital, Nongoitrous, 4:

42
Thyroid, Pituitary, Breast, Heart, Bone, Testes, B Cells

Publications for Hypothyroidism, Congenital, Nongoitrous, 4

Articles related to Hypothyroidism, Congenital, Nongoitrous, 4:

(show all 21)
# Title Authors Year
1
Adult combined GH, prolactin, and TSH deficiency associated with circulating PIT-1 antibody in humans. ( 21123951 )
2011
2
Diagnosis and treatment of hypothyroidism in TSH deficiency compared to primary thyroid disease: pituitary patients are at risk of under-replacement with levothyroxine. ( 21521256 )
2011
3
Longitudinal study of patients with idiopathic isolated TSH deficiency: possible progression of pituitary dysfunction in lymphocytic adenohypophysitis. ( 16896268 )
2006
4
Four new cases of congenital secondary hypothyroidism due to a splice site mutation in the thyrotropin-beta gene: phenotypic variability and founder effect. ( 15292359 )
2004
5
Congenital secondary hypothyroidism caused by exon skipping due to a homozygous donor splice site mutation in the TSHbeta-subunit gene. ( 11788671 )
2002
6
Congenital central hypothyroidism due to homozygous thyrotropin beta 313 Delta T mutation is caused by a Founder effect. ( 12364478 )
2002
7
Hyperplastic pituitary gland, high serum glycoprotein hormone alpha-subunit, and variable circulating thyrotropin (TSH) levels as hallmark of central hypothyroidism due to mutations of the TSH beta gene. ( 11297590 )
2001
8
New autosomal recessive mutation of the TSH-beta subunit gene causing central isolated hypothyroidism. ( 11549695 )
2001
9
Congenital central hypothyroidism due to a homozygous mutation in the thyrotropin beta-subunit gene follows an autosomal recessive inheritance. ( 9589689 )
1998
10
A case of idiopathic thyrotropin (TSH) deficiency. ( 9159047 )
1997
11
GH and TSH deficiency. ( 9439906 )
1997
12
A circulating, biologically inactive thyrotropin caused by a mutation in the beta subunit gene. ( 8636437 )
1996
13
Isolated TSH deficiency with a partially empty sella. ( 8719305 )
1995
14
A case of isolated TSH deficiency presenting as infertility. ( 8183759 )
1994
15
Familial hypothyroidism caused by a nonsense mutation in the thyroid-stimulating hormone beta-subunit gene. ( 1971148 )
1990
16
Thyroid-stimulating hormone (TSH) deficiency caused by a single base substitution in the CAGYC region of the beta-subunit. ( 2792087 )
1989
17
Thyroid-stimulating hormone (TSH) deficiency caused by a single base substitution in the CAGYC region of the beta-subunit. ( 16453906 )
1989
18
Adrenal catecholamine content: effects of congenital GH, PRL and TSH deficiency and of hormone replacement therapy in the male mouse. ( 3758194 )
1986
19
Isolated ACTH deficiency and TSH deficiency in the adult. ( 233250 )
1979
20
Isolated TSH deficiency presenting as myxedema heart disease. ( 4253518 )
1971
21
Isolated thyroid-stimulating hormone (TSH) deficiency following childbirth. ( 4163013 )
1966

Variations for Hypothyroidism, Congenital, Nongoitrous, 4

ClinVar genetic disease variations for Hypothyroidism, Congenital, Nongoitrous, 4:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 TSHB NM_000549.4(TSHB): c.145G> A (p.Gly49Arg) single nucleotide variant Pathogenic rs121918668 GRCh37 Chromosome 1, 115576128: 115576128
2 TSHB NM_000549.4(TSHB): c.145G> A (p.Gly49Arg) single nucleotide variant Pathogenic rs121918668 GRCh38 Chromosome 1, 115033507: 115033507
3 TSHB NM_000549.4(TSHB): c.94G> T (p.Glu32Ter) single nucleotide variant Pathogenic rs121918669 GRCh37 Chromosome 1, 115576077: 115576077
4 TSHB NM_000549.4(TSHB): c.94G> T (p.Glu32Ter) single nucleotide variant Pathogenic rs121918669 GRCh38 Chromosome 1, 115033456: 115033456
5 TSHB TSHB, 1-BP DEL, 313T deletion Pathogenic
6 TSHB NM_000549.4(TSHB): c.205C> T (p.Gln69Ter) single nucleotide variant Pathogenic rs121918670 GRCh37 Chromosome 1, 115576636: 115576636
7 TSHB NM_000549.4(TSHB): c.205C> T (p.Gln69Ter) single nucleotide variant Pathogenic rs121918670 GRCh38 Chromosome 1, 115034015: 115034015
8 TSHB TSHB, IVS2, G-A, +5 single nucleotide variant Pathogenic
9 TSHB NM_000549.4(TSHB): c.40A> G (p.Thr14Ala) single nucleotide variant Benign rs10776792 GRCh38 Chromosome 1, 115033402: 115033402
10 TSHB NM_000549.4(TSHB): c.40A> G (p.Thr14Ala) single nucleotide variant Benign rs10776792 GRCh37 Chromosome 1, 115576023: 115576023
11 TSHB NM_000549.4(TSHB): c.373delT (p.Cys125Valfs) deletion Pathogenic/Likely pathogenic rs755485552 GRCh37 Chromosome 1, 115576804: 115576804
12 TSHB NM_000549.4(TSHB): c.373delT (p.Cys125Valfs) deletion Pathogenic/Likely pathogenic rs755485552 GRCh38 Chromosome 1, 115034183: 115034183

Expression for Hypothyroidism, Congenital, Nongoitrous, 4

Search GEO for disease gene expression data for Hypothyroidism, Congenital, Nongoitrous, 4.

Pathways for Hypothyroidism, Congenital, Nongoitrous, 4

Pathways related to Hypothyroidism, Congenital, Nongoitrous, 4 according to KEGG:

38
# Name Kegg Source Accession
1 Thyroid hormone synthesis hsa04918

GO Terms for Hypothyroidism, Congenital, Nongoitrous, 4

Cellular components related to Hypothyroidism, Congenital, Nongoitrous, 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.56 CRH GH1 IGF1 POMC PRL SERPINA7
2 extracellular region GO:0005576 9.28 CRH GH1 IGF1 POMC PRL SERPINA7
3 endosome lumen GO:0031904 9.26 GH1 PRL
4 secretory granule GO:0030141 9.16 POMC TRH

Biological processes related to Hypothyroidism, Congenital, Nongoitrous, 4 according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 regulation of multicellular organism growth GO:0040014 9.55 IGF1 PRL
2 positive regulation of cell proliferation GO:0008284 9.55 CRH IGF1 PBX1 POU1F1 PRL
3 positive regulation of JAK-STAT cascade GO:0046427 9.54 GH1 PRL
4 adrenal gland development GO:0030325 9.52 CRH PBX1
5 response to corticosterone GO:0051412 9.51 CRH TRH
6 embryonic hemopoiesis GO:0035162 9.49 PBX1 TPO
7 response to ethanol GO:0045471 9.48 CRH TRH
8 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.43 GH1 PRL
9 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.4 GH1 IGF1
10 hormone biosynthetic process GO:0042446 9.37 TG TPO
11 adenohypophysis development GO:0021984 9.26 POU1F1 PROP1
12 regulation of signaling receptor activity GO:0010469 9.17 GH1 IGF1 POMC PRL TG TRH
13 regulation of ossification GO:0030278 9.16 PBX1
14 parturition GO:0007567 9.02 CRH
15 somatotropin secreting cell differentiation GO:0060126 8.96 POU1F1 PROP1

Molecular functions related to Hypothyroidism, Congenital, Nongoitrous, 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 9.23 CRH GH1 IGF1 POMC PRL TG
2 prolactin receptor binding GO:0005148 8.96 GH1 PRL

Sources for Hypothyroidism, Congenital, Nongoitrous, 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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